Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01808:Pcdhb4'

155725

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL01808

Quality Score

Status

Chromosome

Chromosomal Location

37440508-37444225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37442067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 459 (V459A)

Ref Sequence

ENSEMBL: ENSMUSP00000059770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056712] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91XZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000051754

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
CA	44	131	6.29e-1	SMART
CA	155	240	7.16e-21	SMART
CA	264	345	1.22e-23	SMART
CA	368	449	2.86e-20	SMART
CA	473	559	2.55e-26	SMART
CA	589	670	1.11e-8	SMART
Pfam:Cadherin_C_2	687	770	9.9e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056712
AA Change: V459A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: V459A

Domain	Start	End	E-Value	Type
CA	54	131	1.66e0	SMART
CA	155	240	1.07e-19	SMART
CA	264	344	6.03e-28	SMART
CA	367	448	2.57e-22	SMART
CA	472	558	3.36e-26	SMART
CA	588	669	3.48e-10	SMART
Pfam:Cadherin_C_2	685	768	1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193025

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ager	A	T	17: 34,818,431 (GRCm39)	Q266L	probably damaging	Het
Amz1	A	G	5: 140,727,034 (GRCm39)		probably benign	Het
Ebf2	C	T	14: 67,651,932 (GRCm39)	A488V	probably benign	Het
Gm5885	A	T	6: 133,508,181 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,140,490 (GRCm39)	S220P	probably damaging	Het
Gpr171	G	A	3: 59,005,572 (GRCm39)	P68S	probably damaging	Het
H2ax	T	C	9: 44,246,246 (GRCm39)	I63T	possibly damaging	Het
H2-M9	A	T	17: 36,952,711 (GRCm39)		probably null	Het
Igsf9	T	C	1: 172,312,370 (GRCm39)	V27A	probably benign	Het
Kcnh6	G	T	11: 105,914,753 (GRCm39)		probably benign	Het
Mapkbp1	A	G	2: 119,853,650 (GRCm39)		probably null	Het
Mllt6	C	A	11: 97,563,310 (GRCm39)	H298N	possibly damaging	Het
Mtmr3	A	G	11: 4,447,404 (GRCm39)	I352T	probably damaging	Het
Mtrr	T	C	13: 68,714,212 (GRCm39)	D509G	probably benign	Het
Ncan	C	T	8: 70,560,090 (GRCm39)		probably null	Het
Or51aa2	T	A	7: 103,187,781 (GRCm39)	Y220F	probably damaging	Het
Phrf1	C	A	7: 140,840,879 (GRCm39)	P1274Q	probably damaging	Het
Slc4a2	T	C	5: 24,645,205 (GRCm39)	L1125P	probably damaging	Het
Synpo	T	C	18: 60,735,280 (GRCm39)	I650V	probably benign	Het
Tsc1	G	A	2: 28,552,519 (GRCm39)	R86H	probably damaging	Het
Ugt2a3	A	G	5: 87,473,414 (GRCm39)	V501A	probably benign	Het
Vmn1r203	T	C	13: 22,708,717 (GRCm39)	I166T	probably benign	Het
Vps13a	A	G	19: 16,687,650 (GRCm39)	C933R	probably damaging	Het
Zfp142	A	T	1: 74,615,184 (GRCm39)	F342Y	probably damaging	Het

Other mutations in Pcdhb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Pcdhb4	APN	18	37,442,969 (GRCm39)	missense	possibly damaging	0.68
IGL01319:Pcdhb4	APN	18	37,441,566 (GRCm39)	missense	probably benign
IGL01325:Pcdhb4	APN	18	37,442,676 (GRCm39)	missense	probably damaging	1.00
IGL01608:Pcdhb4	APN	18	37,441,803 (GRCm39)	missense	probably damaging	1.00
IGL01962:Pcdhb4	APN	18	37,442,057 (GRCm39)	missense	possibly damaging	0.90
IGL02280:Pcdhb4	APN	18	37,440,735 (GRCm39)	missense	probably benign	0.00
IGL02622:Pcdhb4	APN	18	37,442,721 (GRCm39)	missense	probably benign	0.00
IGL03025:Pcdhb4	APN	18	37,443,030 (GRCm39)	missense	possibly damaging	0.62
IGL03137:Pcdhb4	APN	18	37,441,569 (GRCm39)	missense	probably damaging	0.98
P0031:Pcdhb4	UTSW	18	37,441,938 (GRCm39)	missense	probably damaging	1.00
R0385:Pcdhb4	UTSW	18	37,442,268 (GRCm39)	missense	probably damaging	1.00
R0611:Pcdhb4	UTSW	18	37,441,263 (GRCm39)	missense	probably damaging	1.00
R0671:Pcdhb4	UTSW	18	37,440,795 (GRCm39)	missense	probably benign	0.01
R0738:Pcdhb4	UTSW	18	37,441,764 (GRCm39)	missense	probably damaging	1.00
R0853:Pcdhb4	UTSW	18	37,442,938 (GRCm39)	nonsense	probably null
R0893:Pcdhb4	UTSW	18	37,442,423 (GRCm39)	splice site	probably null
R1932:Pcdhb4	UTSW	18	37,442,594 (GRCm39)	missense	probably benign	0.33
R1945:Pcdhb4	UTSW	18	37,441,921 (GRCm39)	missense	probably damaging	1.00
R2194:Pcdhb4	UTSW	18	37,441,788 (GRCm39)	missense	probably damaging	1.00
R2273:Pcdhb4	UTSW	18	37,441,979 (GRCm39)	missense	probably damaging	1.00
R3807:Pcdhb4	UTSW	18	37,442,367 (GRCm39)	missense	probably damaging	0.98
R3815:Pcdhb4	UTSW	18	37,441,065 (GRCm39)	missense	probably damaging	1.00
R3816:Pcdhb4	UTSW	18	37,441,065 (GRCm39)	missense	probably damaging	1.00
R3974:Pcdhb4	UTSW	18	37,441,901 (GRCm39)	missense	possibly damaging	0.55
R4558:Pcdhb4	UTSW	18	37,443,017 (GRCm39)	missense	probably benign
R4606:Pcdhb4	UTSW	18	37,441,705 (GRCm39)	missense	probably damaging	1.00
R4615:Pcdhb4	UTSW	18	37,441,553 (GRCm39)	missense	probably benign	0.02
R4840:Pcdhb4	UTSW	18	37,441,452 (GRCm39)	missense	possibly damaging	0.60
R5240:Pcdhb4	UTSW	18	37,442,979 (GRCm39)	missense	possibly damaging	0.78
R5272:Pcdhb4	UTSW	18	37,440,819 (GRCm39)	missense	probably benign	0.04
R5586:Pcdhb4	UTSW	18	37,442,034 (GRCm39)	missense	probably damaging	1.00
R5683:Pcdhb4	UTSW	18	37,442,042 (GRCm39)	missense	probably benign	0.45
R5917:Pcdhb4	UTSW	18	37,442,619 (GRCm39)	missense	probably damaging	1.00
R6110:Pcdhb4	UTSW	18	37,441,482 (GRCm39)	missense	possibly damaging	0.80
R6383:Pcdhb4	UTSW	18	37,441,074 (GRCm39)	missense	probably damaging	1.00
R6877:Pcdhb4	UTSW	18	37,442,625 (GRCm39)	missense	probably damaging	1.00
R7036:Pcdhb4	UTSW	18	37,441,835 (GRCm39)	missense	possibly damaging	0.95
R7204:Pcdhb4	UTSW	18	37,442,292 (GRCm39)	missense	probably damaging	1.00
R7271:Pcdhb4	UTSW	18	37,441,222 (GRCm39)	missense	possibly damaging	0.89
R7436:Pcdhb4	UTSW	18	37,442,328 (GRCm39)	missense	probably damaging	1.00
R7444:Pcdhb4	UTSW	18	37,442,505 (GRCm39)	missense	probably damaging	1.00
R7614:Pcdhb4	UTSW	18	37,442,602 (GRCm39)	missense	probably benign	0.40
R7650:Pcdhb4	UTSW	18	37,442,667 (GRCm39)	missense	probably damaging	1.00
R7664:Pcdhb4	UTSW	18	37,442,293 (GRCm39)	missense	probably damaging	1.00
R8080:Pcdhb4	UTSW	18	37,442,349 (GRCm39)	missense	probably benign	0.42
R8087:Pcdhb4	UTSW	18	37,441,717 (GRCm39)	missense	probably damaging	1.00
R8115:Pcdhb4	UTSW	18	37,442,453 (GRCm39)	missense	probably damaging	0.99
R8697:Pcdhb4	UTSW	18	37,441,832 (GRCm39)	missense	probably benign	0.15
R8815:Pcdhb4	UTSW	18	37,442,055 (GRCm39)	missense	probably damaging	1.00
R9008:Pcdhb4	UTSW	18	37,440,714 (GRCm39)	missense	probably benign
R9225:Pcdhb4	UTSW	18	37,441,695 (GRCm39)	missense	possibly damaging	0.68
R9278:Pcdhb4	UTSW	18	37,441,925 (GRCm39)	missense	possibly damaging	0.61
R9299:Pcdhb4	UTSW	18	37,442,264 (GRCm39)	missense	probably benign	0.02
R9390:Pcdhb4	UTSW	18	37,442,781 (GRCm39)	missense	possibly damaging	0.80
R9582:Pcdhb4	UTSW	18	37,441,417 (GRCm39)	missense	probably damaging	1.00
R9686:Pcdhb4	UTSW	18	37,442,943 (GRCm39)	missense	probably damaging	0.98
R9721:Pcdhb4	UTSW	18	37,442,905 (GRCm39)	missense	possibly damaging	0.70
Z1177:Pcdhb4	UTSW	18	37,442,966 (GRCm39)	missense	probably benign	0.02

Posted On

2014-02-04